Revel Score:
ENST00000297268 (MANE Select)
0.978
ENST00000545487
0.978
gnomAD v4:
Joint Max Group AF
0.00002585 (NFE)
Exomes Max Group AF
0.00002743 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94425655G>A , CM000669.2:g.94425655G>A | GRCh38 |
| NC_000007.13:g.94054967G>A , CM000669.1:g.94054967G>A | GRCh37 |
| NC_000007.12:g.93892903G>A | NCBI36 |
| NG_007405.1:g.36095G>A , LRG_2:g.36095G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.2827G>A MANE Select | ENSP00000297268.6:p.Gly943Arg | |
| ENST00000297268.10:c.2827G>A | ENSP00000297268.6:p.Gly943Arg | |
| ENST00000469732.1:n.610G>A | ||
| ENST00000478215.1:n.386G>A | ||
| ENST00000481570.5:n.2800G>A | ||
| ENST00000620463.1:c.2821G>A | ENSP00000477719.1:p.Gly941Arg | |
| NM_000089.3:c.2827G>A , LRG_2t1:c.2827G>A | NP_000080.2:p.Gly943Arg | |
| NM_000089.4:c.2827G>A MANE Select | NP_000080.2:p.Gly943Arg |